Duke's Reputation in Action

There have been a couple instances over the past few weeks where I have been amazed at the people at Duke.

One of our lecturer's was giving a lecture and mentioned a term for a component of RNA replication. Then he said it should more properly be called something else because they now know more about its make up, but it was kind of his fault that it had the first more vague name because he was one of the people who helped name it. There was also one guy who is now mentioned in basic biology texts who joked about how strange it was that he has been working long enough that he's become of historical interest (not that he was that old! I think he was in his 50's).

And I listen to NPR on my commute and it really surprises me how much researchers are Duke (and UNC Chapel Hill, to be fair) are mentioned. More than one lecturer has mentioned how their lab has been involved in developing/researching treatments that are currently the standard of care for their given areas of research. We had one particularly touching moment last week when being taught about ADA Deficiency with resulting SCID where one researcher was able to share pictures of children who were thriving when two decades ago this was considered a fatal disease.

Movie about Pompe

But today was probably the most impressive moment. We were learning about glycogen metabolism and part of that was glycogen storage diseases. A researcher came in to discuss Pompe Disease, which in its *infant-onset form was fatal (generally before the first birthday). A treatment developed by this team at Duke was FDA approved in April 2006. Before then if your baby had this disease they died, after the treatment if your child was diagnosed they were going to live. The first generation of children diagnosed with infant-onset is out there and show every indication of growing to adulthood (we got to see video of some of the children involved in the first trial and meet a patient with Pompe Disease).

There are still some effects of the disease, mostly with motor function because it causes muscle damage, but nothing compared to what children born even six years ago would have experienced.
People are alive because of that research team. In the space of a few years a disease has gone from a sure and certain death sentence to a completely treatable condition. That's amazing!

*There is an adult-onset version which was much milder form of the disease.